Syndrome of Walker-Warburg

The syndrome of Walker-Warburg most severe of the congenital muscular Dystrophies is associated in anomalies of the brain and eyes leading quickly to the death of the child in the majority of the cases before three years. The neurological anomalies most frequent are the suitable for paving lissencéphalie, the Hydrocéphalie and the anomalies of the Cervelet.

The clinical demonstrations with the birth are generalized hypotonia, a muscular weakness, a delay of psychomotor development and perfois of the convulsives crises. The biological anomaly is an insufficient glycosylation of α-dystroglycane. Several genes are impliquès but all are not known. Several changes were found in the gene Protein O-Mannosyltransferase 1 and the gene Protein O-Mannosyltransferase 2 and a change in gene coding the fukutin.

Creatin kinase is high, the muscular biopsy reveals signs of muscular dystrophy and a lowered activity of the α-dystroglycane. The diagnosis anténatal is possible at the families whose change is known, if not echography is useful in the other cases. No treatment is possible.

The description of the syndrome of Walker-Warburg associates in addition to the lissencéphalie, a Hydrocéphalie, a abnormal Rétine with sometimes a Omphalocèle explaining the English acronym of HARD+-E.

Other names of the disease

Syndrome of HARDWARE + E
Syndrome of Warburg
Syndrome of Chemke
Syndrome of ocular Pagon
Dysplasie cérébro
muscular Syndrome dystrophy ocular dysplasy cérébro

Sources

Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 236670 * Jiri Vajsar, Harry Schachter, Walker-Warburg syndrome Orphanet Newspaper off Rare Diseases 2006,1:29 DOI: 10.1186/1750-1172-1-29 ===Références===

Random links: